ArticleThe Journal of biological chemistry2011
Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.
Article in The Journal of biological chemistry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 46 citations in OpenAlex.
- Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD.Blood advances · 2022Article
- The disulfide bond Cys2724-Cys2774 in the C-terminal cystine knot domain of von Willebrand factor is critical for its dimerization and secretion.Thrombosis journal · 2021Article
- Sec22b determines Weibel-Palade body length by controlling anterograde ER-Golgi transport.Haematologica · 2021Article
- Lowering the increased intracellular pH of human-induced pluripotent stem cell-derived endothelial cells induces formation of mature Weibel-Palade bodies.Stem cells translational medicine · 2020Article
- Von Willebrand Disease: From In Vivo to In Vitro Disease Models.HemaSphere · 2019Review
- Angiodysplasia in von Willebrand Disease: Understanding the Clinical and Basic Science.Seminars in thrombosis and hemostasis · 2017Review
- Discrepant platelet and plasma von Willebrand factor in von Willebrand disease patients with p.Pro2808Leufs*24.Journal of thrombosis and haemostasis : JTH · 2017Article
- Article
- Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.Thrombosis research · 2016Article
- Enhanced assay of endothelial exocytosis using extracellular matrix components.Analytical biochemistry · 2014Article
- Blocking von Willebrand factor for treatment of cutaneous inflammation.The Journal of investigative dermatology · 2014Article
- Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.Haematologica · 2013Article
- Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.Blood · 2013Article
- Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.Haematologica · 2012Article
- Characterization of zebrafish von Willebrand factor reveals conservation of domain structure, multimerization, and intracellular storage.Advances in hematology · 2012Article
- Chemical chaperones improve protein secretion and rescue mutant factor VIII in mice with hemophilia A.PloS one · 2012Article
- Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.PloS one · 2012Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several missense mutations in the von Willebrand Factor (VWF) gene of von Willebrand disease (VWD) patients have been shown to cause impaired constitutive secretion and intracellular retention of VWF. However, the effects of those mutations on the intracellular storage in Weibel-Palade bodies (WPBs) of endothelial cells and regulated secretion of VWF remain unknown. We demonstrate, by expression of quantitative VWF mutants in HEK293 cells, that four missense mutations in the D3 and CK-domain of VWF diminished the storage in pseudo-WPBs, and led to retention of VWF within the endoplasmic reticulum (ER). Immunofluorescence and electron microscopy data showed that the pseudo-WPBs formed by missense mutant C1060Y are indistinguishable from those formed by normal VWF. C1149R, C2739Y, and C2754W formed relatively few pseudo-WPBs, which were often short and sometimes round rather than cigar-shaped. The regulated secretion of VWF was impaired slightly for C1060Y but severely for C1149R, C2739Y, and C2754W. Upon co-transfection with wild-type VWF, both intracellular storage and regulated secretion of all mutants were (partly) corrected. In conclusion, defects in the intracellular storage and regulated secretion of VWF following ER retention may be a common mechanism underlying VWD with a quantitative deficiency of VWF.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.